1214 Familial Short Stature: Variant Of The Silver-Russell Syndrome (Srs) Or A New Entity View Full Text


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Article Info

DATE

1981-04

AUTHORS

Robert Rapaport, Lenore S Levine, Maria I New

ABSTRACT

We evaluated a 13 5/12 yr old boy for short stature (height age 8 yrs, weight age 7 1/2 yrs). His birth weight was 2.27 kg. He had high pitched voice, prominent forehead, frontal bossing, deep set eyes, fish-shaped downturning mouth, Kirner's deformity of the distal phalanges of the fifth finger, high metacarpal index, partial 2-3 toe syndactyly bilaterally, one pigmented nevus and asymmetrical kidneys. He was in early puberty (Tanner II); his bone age was 11 1/2 yrs. He had no organic, systemic, hormonal or chromosomal abnormalities. His baseline somatomedin and stimulated growth hormone (GH) levels were normal. Administration of Human GH, 1 u IM daily for five days, did not have any effect on the somatomedin levels or on his nitrogen, sodium, potassium, calcium or phosphorus balances. There is evidence (history and photographs) for the presence of this syndrome of short stature in 12 family members in five generations. We examined seven members of three generations. The six affected members reached adult heights of 128-150 cms. All had normal somatomedin levels. All had birth weights > 2.0 kg, and three > 2.5 kg. This family represents either a normal birth weight variant of the SRS, inherited as an autosomal dominant trait, or a new entity of familial short stature unaccompanied by significant growth retardation. More... »

PAGES

645

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198104001-01240

DOI

http://dx.doi.org/10.1203/00006450-198104001-01240

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016209374


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